Canonical Allele Identifier: CA2172237968

Gene: NDUFAF1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.41396561G= , CM000677.2:g.41396561G=	GRCh38
NC_000015.9:g.41688759G= , CM000677.1:g.41688759G=	GRCh37
NC_000015.8:g.39476051G=	NCBI36
NG_031924.1:g.10900C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260361.9:c.499C= MANE Select	ENSP00000260361.4:p.Leu167=
ENST00000558719.2:c.499C=	ENSP00000454083.2:p.Leu167=
ENST00000560978.2:c.499C=	ENSP00000453944.2:p.Leu167=
ENST00000676533.1:c.499C=	ENSP00000504040.1:p.Leu167=
ENST00000676906.1:c.40C=	ENSP00000503122.1:p.Leu14=
ENST00000677477.1:n.1725C=
ENST00000678029.1:c.499C=	ENSP00000503887.1:p.Leu167=
ENST00000678745.1:c.499C=	ENSP00000503632.1:p.Leu167=
ENST00000679094.1:c.499C=	ENSP00000504295.1:p.Leu167=
ENST00000679240.1:n.897C=
ENST00000260361.8:c.499C=	ENSP00000260361.4:p.Leu167=
ENST00000558719.1:c.499C=	ENSP00000454083.1:p.Leu167=
ENST00000559127.5:c.499C=	ENSP00000453027.1:p.Leu167=
ENST00000560978.1:c.499C=	ENSP00000453944.1:p.Leu167=
NM_016013.3:c.499C=	NP_057097.2:p.Leu167=
NR_045620.1:n.897C=
XM_006720555.1:c.499C=	XP_006720618.1:p.Leu167=
XM_011521658.1:c.499C=	XP_011519960.1:p.Leu167=
XM_011521659.1:c.499C=	XP_011519961.1:p.Leu167=
XM_006720555.3:c.499C=	XP_006720618.1:p.Leu167=
XM_011521659.3:c.499C=	XP_011519961.1:p.Leu167=
XM_024449945.1:c.499C=	XP_024305713.1:p.Leu167=
NM_016013.4:c.499C= MANE Select	NP_057097.2:p.Leu167=
NR_045620.2:n.933C=